ZRS Sequence Analysis (Intron 5 of LMBR1 Gene)

Forms and Documents

Test Details

LMBR1
  • Confirmation of a clinical diagnosis
  • Differentiation from other causes of syndromic and isolated limb abnormalities
  • Prenatal diagnosis in families with a known mutation
  • Capillary Sequencing

Ordering

502
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81479x1
No
Yes
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 755 Other congenital anomalies of limbs Excludes: those deformities classifiable to 754.0-754.8
  • 755.00 Polydactyly, unspecified digits Supernumerary digits
  • 755.1 Syndactyly Symphalangy Webbing of digits
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References

  1. Furniss et al., (2008) Hum Mol Genet 17(16):2417-2423.
  2. Wu et al., (2009) Am J Med Genet Part A 149A:816-818.
  3. Wieczorek et al., (2010) Hum Mutat 31(1):81-89.
  4. Sun et al., (2008) J Med Genet 45:589-595.
  5. Semerci et al., (2009) Clin Genet 76:85-90.
  6. Klopocki et al., (2008) J Med Genet 45:370-375.
  7. Furniss et al., (2009) J Med Genet 46:730-735.
  8. Gurnett et al., (2007) Am J Med Genet Part A 143A:27-32.